Abstract：
:The identification of marker chromosomes is important for genetic counseling. However, the origin or composition can rarely be defined with conventional cytogenetic technique alone. In this study, we investigated the incidences and types of marker chromosomes in Korean patients and attempted to establish a cost-effective diagnostic approach for marker chromosomes. We reviewed the karyotypes of 2,984 patients that were requested for the cytogenetic analysis between 1997 and 2003 at the Samsung Medical Center. Ten marker chromosomes were found and identified using fluorescent in situ hybridization (FISH). Among the ten marker chromosomes, six were supernumerary marker chromosomes (SMCs) and the rest were marker chromosomes in Turner syndrome (TS). The incidence of SMCs was 2.01/1,000, slightly higher than that previously reported. Five of six SMCs were satellited marker chromosomes. Three bisatellited marker chromosomes originated from chromosome 15 and two from chromosome 22. The origin of one SMC could not be identified. All marker chromosomes in TS originated from X- or Y chromosome. The application of FISH is indispensable to identify marker chromosomes, and the appropriate selection of probes is necessary for cost-effective analysis. For analyzing satellited marker chromosomes, application of probes for chromosome 15 followed by those for chromosome 22 is recommended and in cases of TS, probes for sex chromosomes should take precedence.
journal_name
J Korean Med Scijournal_title
Journal of Korean medical scienceauthors
Woo HY,Cho HJ,Kong SY,Kim HJ,Jeon HB,Kim EC,Park H,Kim YJ,Kim SHdoi
10.3346/jkms.2003.18.6.773keywords:
subject
Has Abstractpub_date
2003-12-01 00:00:00pages
773-8issue
6eissn
1011-8934issn
1598-6357pii
200312773journal_volume
18pub_type
杂志文章abstract：Background:This study aimed to analyze the barriers affecting the utilization of antenatal care (ANC) among Senegalese mothers. Methods:Health facility staffs were surveyed to examine the availability coverage of ANC (infrastructural capacity of health posts to handle maternal and newborn healthcare). A total of 113 w...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2019.34.e62
更新日期：2019-02-15 00:00:00
abstract：:We aimed to investigate epidemiology and host- and pathogen-related factors associated with clinical severity of acute gastroenteritis (AGE) in children after rotavirus vaccination introduction. Factors assessed included age, co-infection with more than 2 viruses, and virus-toxigenic Clostridium difficile co-detection...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2017.32.3.465
更新日期：2017-03-01 00:00:00
abstract：:Early fetal growth delay and early oligohydramnios have been suspected as signs of embryonal jeopardy. However, little information is available for the prediction of early abortion. Sonographic examination of 111 early pregnancies between the sixth and ninth gestational week with regular, 28 day menstrual cycles was p...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.1992.7.1.34
更新日期：1992-03-01 00:00:00
abstract：BACKGROUND:Tetrabromobisphenol A (TBBPA), one of the most widely used brominated flame-retardants, is a representative persistent organic pollutants group. Studies on TBBPA toxicity have been conducted using various target cells; however, few studies have investigated TBBPA toxicity in bone cells. Therefore, this study...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2019.34.e267
更新日期：2019-10-28 00:00:00
abstract：:The clinical significance of positive B-cell complement-dependent cytotoxicity crossmatching (B-CDC) in renal transplant recipients remains unclear. We reviewed 20 recipients with isolated B-CDC positivity at the time of transplantation. We compared the clinical characteristics, acute rejection and long-term graft sur...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2011.26.4.528
更新日期：2011-04-01 00:00:00
abstract：Background:The aim of this study was to evaluate the use of the Diagnostic Drawing Series (DDS) as a screening tool for the breast cancer patients with psychological distress. Methods:All of 64 patients with breast cancer participated in this study. Patients' depressive and anxiety symptoms were assessed using Patient...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2018.33.e140
更新日期：2018-04-19 00:00:00
abstract：:Medial medullary infarction is usually manifested as hypoglossal palsy, limb weakness, impairment of proprioception, and oculomotor disturbance. We report a case with the unusual presentation of sensory ataxia. A 71 year-old male presented with ataxia and disequilibrium. Bilateral dysmetria, truncal ataxia, Upbeat nys...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.1996.11.2.193
更新日期：1996-04-01 00:00:00
abstract：BACKGROUND:Pediatric palliative care (PPC) is the active total care of children suffering from life-threatening illnesses. Palliative care includes symptom management, psychosocial support, and end-of-life care. Despite significant advances in disease diagnosis and treatment, resources for PPC of children with serious ...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2018.33.e1
更新日期：2018-01-01 00:00:00
abstract：:This study aimed to investigate pressure changes of renal pelvis and histological change of kidneys in a surgically induced sterile rabbit vesicoureteral reflux (VUR) model. Five rabbits served as a control group, 7 as the sham-operated group, and 8 served as the VUR group. Three weeks later, urodynamic studies were p...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2010.25.9.1352
更新日期：2010-09-01 00:00:00
abstract：:The evaluation of prognostic factors in infants with critical stenosis of the aortic valve and intact ventricular septum is often misleading due to a complex interaction among lesions in the mitral and aortic valves, and the left ventricular myocardium. The clinical parameters on the left ventricular function, such as...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.1997.12.1.49
更新日期：1997-02-01 00:00:00
abstract：:Against the backdrop of population aging, this paper presents the analysis of need-standardised health care utilization among elderly in India. Based on nationally representative morbidity and health care survey 2004, we demonstrate that the need for health care utilization is indeed pro-poor in nature. However, the a...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2015.30.S2.S155
更新日期：2015-11-01 00:00:00
abstract：:IMR is useful for assessing the microvascular dysfunction after primary percutaneous coronary intervention (PCI). It remains unknown whether index of microcirculatory resistance (IMR) reflects the functional outcome in patients with anterior myocardial infarction (AMI) with or without microvascular obstruction (MO).Th...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2012.27.9.1044
更新日期：2012-09-01 00:00:00
abstract：:Japanese hop (Hop J) pollen has been considered as one of the major causative pollen allergens in the autumn season. We developed a new Hop J immunotherapy extract in collaboration with Allergopharma (Reinbeck, Germany) and investigated immunologic mechanisms during 3 yr immunotherapy. Twenty patients (13 asthma with ...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2006.21.5.805
更新日期：2006-10-01 00:00:00
abstract：:Central obesity has been reported as a risk for atherosclerosis and metabolic syndrome. The influence of central obesity on diurnal blood pressure (BP) has not been established. In this study, we investigated the influence of central obesity on the circadian parameters of BP by 24 hr ambulatory BP monitoring. Total 1,...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2013.28.10.1461
更新日期：2013-10-01 00:00:00
abstract：:To examine the relationship between birth characteristics and childhood cancer mortality, a retrospective cohort study of Korean children was conducted using data collected by the national birth register between 1995 and 2006, which were then individually linked to death data. A cohort of 6,479,406 children was follow...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2011.26.3.339
更新日期：2011-03-01 00:00:00
abstract：:Vascular endothelial growth factor (VEGF) is a multi-functional cytokine involved in inflammation, repair and angiogenesis in asthmatic airway. This study aimed to evaluate the role of VEGF in immediate bronchoconstriction induced by TDI inhalation, and in chronic TDI-asthma patients. 11 newly diagnosed TDI-asthma pat...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2004.19.3.359
更新日期：2004-06-01 00:00:00
abstract：:In vascular smooth muscle cells, reactive oxygen species (ROS) were known to mediate platelet-derived growth factor (PDGF)-induced cell proliferation and NADH/NADPH oxidase is the major source of ROS. NADH/NADPH oxidase is controlled by rac1 in non-phagocytic cells. In this study, we examined whether the inhibition of...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2001.16.6.712
更新日期：2001-12-01 00:00:00
abstract：:Extramedullary hematopoiesis (EMH) is occasionally reported in idiopathic myelofibrosis and is generally found in the liver, spleen, and lymph nodes several years after diagnosis. Myelofibrosis presenting as spinal cord compression, resulting from EMH tissue is very rare. A 39-yr-old man presented with back pain, subj...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2007.22.6.1090
更新日期：2007-12-01 00:00:00
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journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2016.31.4.561
更新日期：2016-04-01 00:00:00
abstract：:Despite the increasing use of the rectal balloon in prostate cancer radiotherapy, many issues still remain to be verified objectively including its positional reproducibility and relevance to treatment morbidity. We have developed a custom rectal balloon that has a scale indicating the depth of insertion and dilates s...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2009.24.5.894
更新日期：2009-10-01 00:00:00
abstract：BACKGROUND:Chest radiographs (CXR) are the most commonly used imaging techniques by various clinicians and radiologists. However, detecting lung lesions on CXR depends largely on the reader's experience level, so there have been several trials to overcome this problem using post-processing of CXR. We investigated the a...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2019.34.e250
更新日期：2019-10-07 00:00:00
abstract：:Neuronal migration disorders (NMDs) constitute the main pathologic substrate of medically intractable epilepsy in human. This study is designed to investigate the changes in expression of glutamate receptor subtypes on radiation-induced NMD in rats. The lesion was produced by intrauterine irradiation (240 cGy) on E17 ...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2004.19.3.419
更新日期：2004-06-01 00:00:00
abstract：:Little is known about the prevalence of atopic dermatitis and food allergy outside North America and Europe. We evaluated the prevalence of atopic dermatitis and food allergy with the comparison of prevalence between 1995 and 2000 in Korea and evaluated the correlation of prevalence between atopic dermatitis and food ...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2004.19.5.716
更新日期：2004-10-01 00:00:00
abstract：:Pain is often associated with a more rapid progression of cognitive and functional decline, and behavioral disturbance in dementia. Therefore, it is essential to accurately assesses pain for proper intervention in patients with dementia. The Face, Legs, Activity, Cry, and Consolability (FLACC) scale is an excellent be...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2017.32.11.1852
更新日期：2017-11-01 00:00:00
abstract：:Inflammation has been known to be an important underlying condition for development of various diseases including cancer. The aims of this study were to investigate whether tobacco smoke exposure increases the level of inflammation biomarkers and the GSTM1 and GSTP1 gene polymorphisms are associated with inflammatory ...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2006.21.6.1021
更新日期：2006-12-01 00:00:00
abstract：BACKGROUND:Invasive bacterial infections in apparently immunocompetent children were retrospectively analyzed to figure causative bacterial organisms in Korea. METHODS:A total of 947 cases from 25 university hospitals were identified from 2006 to 2010 as a continuance of a previous 10-year period study from 1996 to 20...
journal_title：Journal of Korean medical science
pub_type： 杂志文章,多中心研究
doi：10.3346/jkms.2018.33.e45
更新日期：2018-02-05 00:00:00
abstract：:The hepatitis A virus (HAV) has been the leading cause of viral hepatitis in Korea since the 2000s. We aimed to describe the current status and regional differences in hepatitis A incidence. We studied the total number of hepatitis A cases reported to the Korea Centers for Disease Control and Prevention through the Na...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2016.31.1.67
更新日期：2016-01-01 00:00:00
abstract：:The overexpression of X-linked inhibitor of apoptosis protein (XIAP), a member of IAP family protein, is intuitively expected to be associated with unfavorable clinical features in malignancies; however, there have been only a very limited number of studies reporting the clinical relevance of XIAP expression. This stu...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2009.24.4.605
更新日期：2009-08-01 00:00:00
abstract：:With the rapid aging of the population, Korea introduced public long-term care insurance for older people in 2008. The long-term care insurance was designed as a separate scheme from the national health insurance, with eligibility qualifications and the certification process based on functional disability, benefits an...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2012.27.S.S41
更新日期：2012-05-01 00:00:00
abstract：:The purpose of this study was to determine whether esterification of dehydroepiandrosterone with aspartate (DHEA-aspartate) could reduce peroxisomal proliferation induced by DHEA itself, without loss of antiosteoporotic activity. Female Sprague-Dawley rats were ovariectomized, then DHEA or DHEA-aspartate was administe...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2000.15.5.533
更新日期：2000-10-01 00:00:00
